Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis

Ilgaz, Fatma; Pinto, Alex; Gökmen-Özel, H.; Rocha, Júlio César; Dam, Esther van; Ahring, Kirsten; Bélanger-Quintana, Amaya; Dokoupil, Katharina; Karabulut, Erdem; MacDonald, Anita

doi:10.3390/nu11092070

Cited by 24 publications

(40 citation statements)

References 66 publications

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“…Regarding physical development, no obvious differences were detected between the NBS and pre-NBS groups. Nevertheless, optimal growth outcomes were not attained in a previous study, even with advances in dietary treatments [ 23 ]. Although our study did not indicate major issues related to growth, physical development should be continuously evaluated for each individual with PKU.…”

Section: Discussionmentioning

confidence: 95%

Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan

Yamada

Yamaguchi

Yokoyama

et al. 2021

IJNS

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Japanese newborn screening (NBS) for phenylketonuria (PKU) was initiated in 1977. We surveyed the neurological outcomes of Japanese adult patients with PKU to investigate the long-term effects and of and issues with NBS. Eighty-five patients with PKU aged over 19 years who continued to be treated with a phenylalanine-free amino acid formula were investigated by administering questionnaires regarding clinical characteristics, such as mental ability, education status, and therapeutic condition. Of the 85 subjects, 68 patients were detected by NBS (NBS group), while the other 17 were clinically diagnosed before the initiation of NBS (pre-NBS group). Further, 10 of the 68 NBS patients presented intellectual and/or psychiatric disabilities, 5 of whom had a history of treatment discontinuation; in contrast, 12 of the 17 pre-NBS patients presented with neuropsychiatric symptoms. Regarding social outcomes, almost all patients in the NBS group could live an independent life, while over half of the patients in the pre-NBS group were not employed or lived in nursing-care facilities. Neurological outcomes are obviously improved by NBS in Japan. However, some patients, even those detected by NBS, developed neuropsychiatric symptoms due to treatment disruption. Lifelong and strict management is essential to maintain good neurological and social prognoses for patients with PKU.

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Section: Discussionmentioning

confidence: 95%

Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan

Yamada

Yamaguchi

Yokoyama

et al. 2021

IJNS

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“…Another confounding factor that may affect body composition is the effect of a long-term low-phenylalanine diet higher in carbohydrates, which may be associated with a higher risk of adiposity and insulin resistance [ 45 , 46 ]. All of these factors may lead to under achievement of optimal growth potential in children with PKU [ 47 ].…”

Section: Discussionmentioning

confidence: 99%

Growth and Body Composition in PKU Children—A Three-Year Prospective Study Comparing the Effects of L-Amino Acid to Glycomacropeptide Protein Substitutes

et al. 2021

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Protein quality and quantity are important factors in determining lean body (muscle) mass (LBM). In phenylketonuria (PKU), protein substitutes provide most of the nitrogen, either as amino acids (AA) or glycomacropeptide with supplementary amino acids (CGMP-AA). Body composition and growth are important indicators of long-term health. In a 3-year prospective study comparing the impact of AA and CGMP-AA on body composition and growth in PKU, 48 children were recruited. N = 19 (median age 11.1 years, range 5–15 years) took AA only, n = 16 (median age 7.3 years, range 5–15 years) took a combination of CGMP-AA and AA, (CGMP50) and 13 children (median age 9.2 years, range 5–16 years) took CGMP-AA only (CGMP100). A dual energy X-ray absorptiometry (DXA) scan at enrolment and 36 months measured LBM, % body fat (%BF) and fat mass (FM). Height was measured at enrolment, 12, 24 and 36 months. No correlation or statistically significant differences (after adjusting for age, gender, puberty and phenylalanine blood concentrations) were found between the three groups for LBM, %BF, FM and height. The change in height z scores, (AA 0, CGMP50 +0.4 and CGMP100 +0.7) showed a trend that children in the CGMP100 group were taller, had improved LBM with decreased FM and % BF but this was not statistically significant. There appeared to be no advantage of CGMP-AA compared to AA on body composition after 3-years of follow-up. Although statistically significant differences were not reached, a trend towards improved body composition was observed with CGMP-AA when it provided the entire protein substitute requirement.

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“…Nutritional requirements of patients with HTI are currently not well defined, but higher protein intakes than WHO/FAO/UNU 2007 safe levels of protein intake are recommended [ 14 , 33 ], accounting for the known inefficient absorption of amino acids from protein substitutes [ 34 ]. In PKU, some studies have suggested that higher protein intakes are related to improved linear growth outcomes, although it is unclear which protein source (natural protein, protein equivalent from protein substitutes, or both) has the most influence on physical development [ 35 ]. In our cohort, median intakes (g/day) of prescribed total protein were correlated positively with height ( p < 0.01).…”

Section: Discussionmentioning

confidence: 99%

Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study

et al. 2021

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In a retrospective review, we aimed to assess long-term growth in 17 patients (n = 11 males) with hereditary tyrosinaemia type I (HTI). Median age at assessment was 15.6 years (5.7–26.6 years) and median age at diagnosis was 1 month (range: 0–16 months), with 35% (n = 6/17) symptomatic on presentation. From the age of 8 years, there was a noticeable change in median height, weight, and body-mass-index [BMI]-z-scores. Median height-for-age z-scores were consistently ≤ −1 (IQR −1.6, −0.5) during the first 8 years of life but increased with age. Weight-for-age z-scores ranged between −1 to 0 (IQR −1.2, 0.1) in the first 8 years; then increased to > 0.5 (IQR −0.3, 1.3) by age 16 years, and BMI-for-age z-scores ranged from 0 to 1 (IQR −0.7, 1.3) up to 8 years, and >1 (IQR −0.2, 1.9) until 16 years. The percentage of overweight and obesity was lowest in children aged < 5 years, and consistently > 40% in patients aged between 7 to 16 years. The prescribed total protein intake was associated with improved height growth (p < 0.01). Impaired growth in early life improved with age achieving normal population standards. Further studies are needed to investigate factors that influence growth outcome in HTI patients.

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Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis

Cited by 24 publications

References 66 publications

Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan

Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan

Growth and Body Composition in PKU Children—A Three-Year Prospective Study Comparing the Effects of L-Amino Acid to Glycomacropeptide Protein Substitutes

Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study

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